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Consensus guidelines for the diagnosis and management of succinic semialdehyde dehydrogenase deficiency.琥珀酸半醛脱氢酶缺乏症的诊断和管理共识指南。
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本文引用的文献

1
The metabolic hypothesis is more likely than the epileptogenic hypothesis to explain stroke-like lesions.代谢假说比致痫假说更有可能解释类中风性病变。
Wellcome Open Res. 2020 Jun 24;5:51. doi: 10.12688/wellcomeopenres.15758.2. eCollection 2020.
2
Consensus-based statements for the management of mitochondrial stroke-like episodes.基于共识的线粒体卒中样发作管理声明。
Wellcome Open Res. 2019 Dec 13;4:201. doi: 10.12688/wellcomeopenres.15599.1. eCollection 2019.
3
Metabolic Stroke: A Novel Presentation in a Child with Succinic Semialdehyde Dehydrogenase Deficiency.代谢性中风：琥珀酸半醛脱氢酶缺乏症患儿的一种新表现形式。
Ann Indian Acad Neurol. 2020 Jan-Feb;23(1):113-117. doi: 10.4103/aian.AIAN_213_18.
4
Mitochondrial metabolic stroke: Phenotype and genetics of stroke-like episodes.线粒体代谢性卒中：卒中样发作的表型和遗传学。
J Neurol Sci. 2019 May 15;400:135-141. doi: 10.1016/j.jns.2019.03.021. Epub 2019 Mar 23.
5
Cerebellar atrophy in human and murine succinic semialdehyde dehydrogenase deficiency.人类和小鼠琥珀酸半醛脱氢酶缺乏症中的小脑萎缩。
J Child Neurol. 2010 Dec;25(12):1457-61. doi: 10.1177/0883073810368137. Epub 2010 May 5.
6
Vigabatrin and newer interventions in succinic semialdehyde dehydrogenase deficiency.丙戊酸和对琥珀酸半醛脱氢酶缺乏症的新干预措施。
Ann Neurol. 2003;54 Suppl 6:S66-72. doi: 10.1002/ana.10626.

Metabolic or Ischemic Stroke in Succinic Semi-aldehyde Dehydrogenase Deficiency Due to the Homozygous Variant c. 1343 + 1_1343 + 3delGTAinsTT in .

作者信息

Finsterer Josef, Scorza Carla A, Scorza Fulvio A, Ghosh Ritwik

机构信息

Krankenanstalt Rudolfstiftung, Vienna, Austria.

Disciplina de Neurociência, Escola Paulista de Medicina, Universidade Federal de São Paulo, (EPM/UNIFESP), São Paulo, Brasil.

出版信息

Ann Indian Acad Neurol. 2021 Mar-Apr;24(2):303-304. doi: 10.4103/aian.AIAN_246_20. Epub 2020 Jun 5.

DOI:10.4103/aian.AIAN_246_20
PMID:34220101
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8232476/
Abstract
摘要